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GeneBe API Showcase
This page demonstrates how to use the GeneBe API to query variant information. The API provides programmatic access to genomic annotations and variant data.
API presented here should be used for checking single variants. If you want to check many variants at once, please use other API endpoints that you will find in the documentation.
Documentation & Advanced Usage
• Complete API documentation:docs.genebe.net/docs/api/overview/
• Interactive endpoint tester:api.genebe.net/cloud/gb-api-doc/swagger-ui/
• Python client for pandas:pypi.org/project/genebe/
• Java CLI for VCF files:github.com/pstawinski/genebe-cli
• All tools documented at:docs.genebe.net
API Request Examples for Variant: 2-134985852-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=134985852&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 134985852,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_025052.5",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP3K19",
"gene_hgnc_id": 26249,
"hgvs_c": "c.3020G>C",
"hgvs_p": "p.Arg1007Thr",
"transcript": "NM_025052.5",
"protein_id": "NP_079328.3",
"transcript_support_level": null,
"aa_start": 1007,
"aa_end": null,
"aa_length": 1328,
"cds_start": 3020,
"cds_end": null,
"cds_length": 3987,
"cdna_start": 3706,
"cdna_end": null,
"cdna_length": 5032,
"mane_select": "ENST00000392915.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_025052.5"
},
{
"aa_ref": "R",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP3K19",
"gene_hgnc_id": 26249,
"hgvs_c": "c.3020G>C",
"hgvs_p": "p.Arg1007Thr",
"transcript": "ENST00000392915.7",
"protein_id": "ENSP00000376647.2",
"transcript_support_level": 5,
"aa_start": 1007,
"aa_end": null,
"aa_length": 1328,
"cds_start": 3020,
"cds_end": null,
"cds_length": 3987,
"cdna_start": 3706,
"cdna_end": null,
"cdna_length": 5032,
"mane_select": "NM_025052.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000392915.7"
},
{
"aa_ref": "R",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP3K19",
"gene_hgnc_id": 26249,
"hgvs_c": "c.3020G>C",
"hgvs_p": "p.Arg1007Thr",
"transcript": "ENST00000375845.8",
"protein_id": "ENSP00000365005.3",
"transcript_support_level": 1,
"aa_start": 1007,
"aa_end": null,
"aa_length": 1328,
"cds_start": 3020,
"cds_end": null,
"cds_length": 3987,
"cdna_start": 3051,
"cdna_end": null,
"cdna_length": 4369,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000375845.8"
},
{
"aa_ref": "R",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP3K19",
"gene_hgnc_id": 26249,
"hgvs_c": "c.2681G>C",
"hgvs_p": "p.Arg894Thr",
"transcript": "ENST00000358371.9",
"protein_id": "ENSP00000351140.4",
"transcript_support_level": 1,
"aa_start": 894,
"aa_end": null,
"aa_length": 1215,
"cds_start": 2681,
"cds_end": null,
"cds_length": 3648,
"cdna_start": 2712,
"cdna_end": null,
"cdna_length": 4044,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000358371.9"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "MAP3K19",
"gene_hgnc_id": 26249,
"hgvs_c": "c.619-2027G>C",
"hgvs_p": null,
"transcript": "ENST00000375844.7",
"protein_id": "ENSP00000365004.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 510,
"cds_start": null,
"cds_end": null,
"cds_length": 1533,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1604,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000375844.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "MAP3K19",
"gene_hgnc_id": 26249,
"hgvs_c": "c.619-2027G>C",
"hgvs_p": null,
"transcript": "ENST00000392918.7",
"protein_id": "ENSP00000376650.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 462,
"cds_start": null,
"cds_end": null,
"cds_length": 1389,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1460,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000392918.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "MAP3K19",
"gene_hgnc_id": 26249,
"hgvs_c": "c.619-4334G>C",
"hgvs_p": null,
"transcript": "ENST00000392917.8",
"protein_id": "ENSP00000376649.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 460,
"cds_start": null,
"cds_end": null,
"cds_length": 1383,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1453,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000392917.8"
},
{
"aa_ref": "R",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP3K19",
"gene_hgnc_id": 26249,
"hgvs_c": "c.3020G>C",
"hgvs_p": "p.Arg1007Thr",
"transcript": "NM_001400438.1",
"protein_id": "NP_001387367.1",
"transcript_support_level": null,
"aa_start": 1007,
"aa_end": null,
"aa_length": 1328,
"cds_start": 3020,
"cds_end": null,
"cds_length": 3987,
"cdna_start": 3762,
"cdna_end": null,
"cdna_length": 5088,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001400438.1"
},
{
"aa_ref": "R",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP3K19",
"gene_hgnc_id": 26249,
"hgvs_c": "c.2681G>C",
"hgvs_p": "p.Arg894Thr",
"transcript": "NM_001018044.3",
"protein_id": "NP_001018054.1",
"transcript_support_level": null,
"aa_start": 894,
"aa_end": null,
"aa_length": 1215,
"cds_start": 2681,
"cds_end": null,
"cds_length": 3648,
"cdna_start": 2712,
"cdna_end": null,
"cdna_length": 4038,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001018044.3"
},
{
"aa_ref": "R",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP3K19",
"gene_hgnc_id": 26249,
"hgvs_c": "c.3071G>C",
"hgvs_p": "p.Arg1024Thr",
"transcript": "NM_001321177.2",
"protein_id": "NP_001308106.1",
"transcript_support_level": null,
"aa_start": 1024,
"aa_end": null,
"aa_length": 1152,
"cds_start": 3071,
"cds_end": null,
"cds_length": 3459,
"cdna_start": 3191,
"cdna_end": null,
"cdna_length": 4350,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001321177.2"
},
{
"aa_ref": "R",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP3K19",
"gene_hgnc_id": 26249,
"hgvs_c": "c.1190G>C",
"hgvs_p": "p.Arg397Thr",
"transcript": "ENST00000437365.2",
"protein_id": "ENSP00000392827.1",
"transcript_support_level": 2,
"aa_start": 397,
"aa_end": null,
"aa_length": 697,
"cds_start": 1190,
"cds_end": null,
"cds_length": 2094,
"cdna_start": 1190,
"cdna_end": null,
"cdna_length": 2719,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000437365.2"
},
{
"aa_ref": "R",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP3K19",
"gene_hgnc_id": 26249,
"hgvs_c": "c.3071G>C",
"hgvs_p": "p.Arg1024Thr",
"transcript": "XM_011511891.3",
"protein_id": "XP_011510193.1",
"transcript_support_level": null,
"aa_start": 1024,
"aa_end": null,
"aa_length": 1345,
"cds_start": 3071,
"cds_end": null,
"cds_length": 4038,
"cdna_start": 3191,
"cdna_end": null,
"cdna_length": 4517,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011511891.3"
},
{
"aa_ref": "R",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP3K19",
"gene_hgnc_id": 26249,
"hgvs_c": "c.2936G>C",
"hgvs_p": "p.Arg979Thr",
"transcript": "XM_017005004.3",
"protein_id": "XP_016860493.1",
"transcript_support_level": null,
"aa_start": 979,
"aa_end": null,
"aa_length": 1300,
"cds_start": 2936,
"cds_end": null,
"cds_length": 3903,
"cdna_start": 3590,
"cdna_end": null,
"cdna_length": 4916,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017005004.3"
},
{
"aa_ref": "R",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP3K19",
"gene_hgnc_id": 26249,
"hgvs_c": "c.2936G>C",
"hgvs_p": "p.Arg979Thr",
"transcript": "XM_017005005.3",
"protein_id": "XP_016860494.1",
"transcript_support_level": null,
"aa_start": 979,
"aa_end": null,
"aa_length": 1300,
"cds_start": 2936,
"cds_end": null,
"cds_length": 3903,
"cdna_start": 3401,
"cdna_end": null,
"cdna_length": 4727,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017005005.3"
},
{
"aa_ref": "R",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP3K19",
"gene_hgnc_id": 26249,
"hgvs_c": "c.2735G>C",
"hgvs_p": "p.Arg912Thr",
"transcript": "XM_011511896.4",
"protein_id": "XP_011510198.1",
"transcript_support_level": null,
"aa_start": 912,
"aa_end": null,
"aa_length": 1233,
"cds_start": 2735,
"cds_end": null,
"cds_length": 3702,
"cdna_start": 3032,
"cdna_end": null,
"cdna_length": 4358,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011511896.4"
},
{
"aa_ref": "R",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP3K19",
"gene_hgnc_id": 26249,
"hgvs_c": "c.2735G>C",
"hgvs_p": "p.Arg912Thr",
"transcript": "XM_011511897.4",
"protein_id": "XP_011510199.1",
"transcript_support_level": null,
"aa_start": 912,
"aa_end": null,
"aa_length": 1233,
"cds_start": 2735,
"cds_end": null,
"cds_length": 3702,
"cdna_start": 3112,
"cdna_end": null,
"cdna_length": 4438,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011511897.4"
},
{
"aa_ref": "R",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP3K19",
"gene_hgnc_id": 26249,
"hgvs_c": "c.2654G>C",
"hgvs_p": "p.Arg885Thr",
"transcript": "XM_017005006.3",
"protein_id": "XP_016860495.1",
"transcript_support_level": null,
"aa_start": 885,
"aa_end": null,
"aa_length": 1206,
"cds_start": 2654,
"cds_end": null,
"cds_length": 3621,
"cdna_start": 2774,
"cdna_end": null,
"cdna_length": 4100,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017005006.3"
},
{
"aa_ref": "R",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP3K19",
"gene_hgnc_id": 26249,
"hgvs_c": "c.3071G>C",
"hgvs_p": "p.Arg1024Thr",
"transcript": "XM_047445917.1",
"protein_id": "XP_047301873.1",
"transcript_support_level": null,
"aa_start": 1024,
"aa_end": null,
"aa_length": 1105,
"cds_start": 3071,
"cds_end": null,
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"cdna_start": 3191,
"cdna_end": null,
"cdna_length": 3466,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047445917.1"
},
{
"aa_ref": "R",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP3K19",
"gene_hgnc_id": 26249,
"hgvs_c": "c.3071G>C",
"hgvs_p": "p.Arg1024Thr",
"transcript": "XM_017005007.2",
"protein_id": "XP_016860496.1",
"transcript_support_level": null,
"aa_start": 1024,
"aa_end": null,
"aa_length": 1086,
"cds_start": 3071,
"cds_end": null,
"cds_length": 3261,
"cdna_start": 3191,
"cdna_end": null,
"cdna_length": 4166,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017005007.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "MAP3K19",
"gene_hgnc_id": 26249,
"hgvs_c": "c.619-2027G>C",
"hgvs_p": null,
"transcript": "NM_001018046.3",
"protein_id": "NP_001018056.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 510,
"cds_start": null,
"cds_end": null,
"cds_length": 1533,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1923,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001018046.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "MAP3K19",
"gene_hgnc_id": 26249,
"hgvs_c": "c.619-2027G>C",
"hgvs_p": null,
"transcript": "NM_001018047.3",
"protein_id": "NP_001018057.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 462,
"cds_start": null,
"cds_end": null,
"cds_length": 1389,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1779,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001018047.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "MAP3K19",
"gene_hgnc_id": 26249,
"hgvs_c": "c.619-4334G>C",
"hgvs_p": null,
"transcript": "NM_001282883.2",
"protein_id": "NP_001269812.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 460,
"cds_start": null,
"cds_end": null,
"cds_length": 1383,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1773,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001282883.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP3K19",
"gene_hgnc_id": 26249,
"hgvs_c": "n.3191G>C",
"hgvs_p": null,
"transcript": "ENST00000638025.2",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4348,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000638025.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP3K19",
"gene_hgnc_id": 26249,
"hgvs_c": "n.*2402G>C",
"hgvs_p": null,
"transcript": "ENST00000662522.1",
"protein_id": "ENSP00000499456.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4793,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000662522.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP3K19",
"gene_hgnc_id": 26249,
"hgvs_c": "n.*2402G>C",
"hgvs_p": null,
"transcript": "ENST00000662522.1",
"protein_id": "ENSP00000499456.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4793,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000662522.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP3K19",
"gene_hgnc_id": 26249,
"hgvs_c": "c.*4G>C",
"hgvs_p": null,
"transcript": "ENST00000637841.1",
"protein_id": "ENSP00000489676.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 909,
"cds_start": null,
"cds_end": null,
"cds_length": 2731,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3281,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000637841.1"
}
],
"gene_symbol": "MAP3K19",
"gene_hgnc_id": 26249,
"dbsnp": "rs1173756000",
"frequency_reference_population": 0.000027271297,
"hom_count_reference_population": 0,
"allele_count_reference_population": 44,
"gnomad_exomes_af": 0.0000294273,
"gnomad_genomes_af": 0.00000657073,
"gnomad_exomes_ac": 43,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.30457139015197754,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.236,
"revel_prediction": "Benign",
"alphamissense_score": 0.1148,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.23,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.34,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -5,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4,BS2",
"acmg_by_gene": [
{
"score": -5,
"benign_score": 5,
"pathogenic_score": 0,
"criteria": [
"BP4",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_025052.5",
"gene_symbol": "MAP3K19",
"hgnc_id": 26249,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.3020G>C",
"hgvs_p": "p.Arg1007Thr"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}